BACE1gene variants do not influence BACE1 activity, levels of APP or Aβ isoforms in CSF in Alzheimers diseaseReportar como inadecuado




BACE1gene variants do not influence BACE1 activity, levels of APP or Aβ isoforms in CSF in Alzheimers disease - Descarga este documento en PDF. Documentación en PDF para descargar gratis. Disponible también para leer online.

Molecular Neurodegeneration

, 5:37

First Online: 17 September 2010Received: 16 June 2010Accepted: 17 September 2010

Abstract

The BACE1 gene encodes the beta-site APP-cleaving enzyme 1 and has been associated with Alzheimer-s disease AD. BACE1 is the most important β-secretase responsible for the generation of Alzheimer-associated amyloid β-proteins Aβ and may play a role in the amyloidogenic process in AD. We hypothesized that BACE1 gene variants might influence BACE1 activity or other markers for APP metabolism in the cerebrospinal fluid CSF and thereby contribute to the development of AD. We genotyped a Swedish sample of 269 AD patients for the rs638405 single nucleotide polymorphism SNP in the BACE1 gene and correlated genotype data to a broad range of amyloid-related biomarkers in CSF, including BACE1 activity, levels of Aβ40, Aβ42, α- and β-cleaved soluble APP α-sAPP and β-sAPP, as well as markers for Alzheimer-type axonal degeneration, i.e., total-tau and phospho-tau181. Gene variants of BACE1 were neither associated with amyloid-related biomarkers, nor with markers for axonal degeneration in AD.

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Autor: Annica Sjölander - Henrik Zetterberg - Ulf Andreasson - Lennart Minthon - Kaj Blennow

Fuente: https://link.springer.com/







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